PELO pelota mRNA surveillance and ribosome rescue factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PELOprovided by HGNC
Official Full Name: pelota mRNA surveillance and ribosome rescue factorprovided by HGNC
Primary source: HGNC:HGNC:8829
See related: Ensembl:ENSG00000152684 MIM:605757; AllianceGenome:HGNC:8829
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI-17; PRO1770
Summary: This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 14.2), spleen (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (52787916..52804044)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (53615621..53631750)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (52083750..52099878)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ribosome-rescuer PELO catalyzes the oligomeric assembly of NOD-like receptor family proteins via activating their ATPase enzymatic activity.
Title: Ribosome-rescuer PELO catalyzes the oligomeric assembly of NOD-like receptor family proteins via activating their ATPase enzymatic activity.
Induction of ribosome rescue factors PELO and HBS1L is required to support protein synthesis when ABCE1 levels fall in platelets, including for hemoglobin production during blood cell development.
Title: Dynamic Regulation of a Ribosome Rescue Pathway in Erythroid Cells and Platelets.
The data suggest that the decay of platelet mRNAs is slowed by the natural loss of the mRNA surveillance and ribosome rescue factor Pelota.
Title: Slowed decay of mRNAs enhances platelet specific translation.
Human Pelota compensated for Dom34 functions in quality control of nonstop mRNA in yeast.
Title: Conserved functions of human Pelota in mRNA quality control of nonstop mRNA.
PELO is a novel regulator of HER-signalling.
Title: PELO negatively regulates HER receptor signalling and metastasis.
The non-stop decay mechanism exists in mammalian cells and involves Hbs1, Dom34, and the exosome-Ski complex.
Title: The Hbs1-Dom34 protein complex functions in non-stop mRNA decay in mammalian cells.
Pelota/Hbs1 induced dissociation of elongation complexes from ribosomes and release of peptidyl-tRNA, but only in the presence of ABCE1.
Title: Dissociation by Pelota, Hbs1 and ABCE1 of mammalian vacant 80S ribosomes and stalled elongation complexes.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
PELO is subcellularly localized at the actin cytoskeleton, interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton; this interaction may facilitate PELO to detect and degrade aberrant mRNAs.
Title: Pelota interacts with HAX1, EIF3G and SRPX and the resulting protein complexes are associated with the actin cytoskeleton.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antiphospholipid antibodies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pol	gag-pol	HIV-1 Pol is identified to have a physical interaction with pelota homolog (PELO) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123048 (e-PCR)
- UniSTS:135441

D5S1686E (e-PCR)
- UniSTS:151074

L28297 (e-PCR)
- UniSTS:76879

SHGC-32850 (e-PCR)
- UniSTS:30854

Pelo (e-PCR), detects polymorphism
- UniSTS:243340

RH121270 (e-PCR)
- UniSTS:138381

PMC310876P1 (e-PCR)
- UniSTS:272785

PELO (e-PCR)
- UniSTS:505762

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleoside-triphosphatase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables stalled ribosome sensor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA surveillance	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in endoderm development	IEA Inferred from Electronic Annotation more info
involved_in inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal to epithelial transition	IEA Inferred from Electronic Annotation more info
involved_in nonfunctional rRNA decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, no-go decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, no-go decay	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, non-stop decay	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosome disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosome disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell population maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Dom34-Hbs1 complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein pelota homolog

Names: hPelota; pelota homolog; protein Dom34 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015946.5 → NP_057030.3 protein pelota homolog

See identical proteins and their annotated locations for NP_057030.3

Status: REVIEWED

Source sequence(s)

AC026230

Consensus CDS

CCDS3956.1

UniProtKB/Swiss-Prot

Q9BRX2, Q9GZS6, Q9Y306

UniProtKB/TrEMBL

B3KPC1

Related

ENSP00000274311.2, ENST00000274311.3

Conserved Domains (4) summary

COG1537
Location:1 → 371

PelA; Stalled ribosome rescue protein Dom34, pelota family [Translation, ribosomal structure and biogenesis]

pfam03463
Location:1 → 128

eRF1_1; eRF1 domain 1

pfam03464
Location:136 → 268

eRF1_2; eRF1 domain 2

pfam03465
Location:271 → 370

eRF1_3; eRF1 domain 3